Another diagnosis?

Yesterday I took Oksana to the genetics clinic at our local Children's Hospital.  They are doing whole exome sequencing.  If you don't know much about that....well neither do I!  Basically it is a really, really detailed form of genetic testing.  In fact, the test is going to take about 6 months to complete.  We gave a detailed history of Oksana and the things we have seen in the last few years.  After examining her the geneticist turned to me and said "I feel confident we are going to find something."  I thought that was a bit unusual since they had just given me a big talk about how there was a possibility they wouldn't find anything or that they would find something but have no idea what it is.  I told her she seemed pretty confident so I asked what she is thinking.  She said she believes that Oksana has a neurodegenerative disease.  I asked her if she was thinking of any specific disease.  She told me that there are MANY of them and that they often present with psychiatric issues.  The loss of some skills is what is concerning her.  Oksana can barely sit up, barely walk, and barely feed herself.  We thought this was all behavioral but I couldn't figure out why nothing we did made any improvement.  She believes Oksana could have something like Nieman-pick type c or Tay Sachs late onset type. 

I have done a whole lot of two things since she told me that:

1)  Cry
2)  Research

Honestly, I completely see why she thinks this.  If this is true it explains so many things.  It all makes sense and I hate that it makes sense.  If this is true, the skills she has lost will never be regained, she will continue to lose skills, and depending on the disease it is fatal. 

So we are in this weird place where we have 6 months to wait for an answer, yet we need to make decisions in those 6 months that keep in mind that this is a very real possibility, while at the same time realizing it could be nothing.  Want to know what my gut says?  My gut says it isn't nothing.  My gut says even if it isn't a neurodegenerative disease she is on the right track.  My gut says Oksana is not going to get those skills back.  So now as we prepare for her to come home we really need to take this into consideration.  A personal care assistant will now help us not only behaviorally but medically.  Quite frankly, I feel fairly confident that if we treat Oksana as someone who has lost skills and not as someone who is trying to get out of doing something it will reduce her behaviors quite a bit. 

I also contacted her physical therapist.  She hasn't seen Oksana for about 4 months now.  I told her about this and she wants to have a big meeting in the new year and discuss what we will need to bring her home.  We have to consider seating, feeding, etc.  If she isn't going to regain these skills we need some serious adaptive equipment.  If she does regain them...fantastic!  We are preparing for the worst and hoping for the best.

Tomorrow we have a big meeting with her team at residential and this will obviously be a topic of conversation.  I also think at this point Oksana needs to come home in February.  If this really is a genetic condition there is nothing more that residential can do for her.  February will give us the time we need to get things in place in our house to care for her.